Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus is a form of diabetes that manifests in the first 6 months of life. An increased blood glucose level may already be evident at birth.

The clinical symptoms begin with antenatal growth retardation, hyperglycaemia, glucosuria, osmotic diuresis, dehydration, macroglossia, and umbilical hernias. Mutations of different genes can cause PNDM. The inheritance is either autosomal dominant or recessive. 

In patients with ZFP57 mutations, structural changes, developmental abnormalities and heart defects often occur. 

After an average of 6 months, the diabetes has subsided. Disorders in the glucose metabolism are detectable until around the 18th month of life. Even later, children suffering from infections may be prone to hyperglycemia.